New DNA Screening Test for Alaskan Newborns Identifies CPT1A Arctic Variant

Every baby born in Alaska undergoes a series of tests just before they leave the hospital to go home. A small blood sample is collected from the baby’s heel and sent to a laboratory for testing that targets about 50 conditions. These routine tests are done to identify any possible disorders in the baby’s body chemistry.

In July, the State of Alaska launched a new DNA test to better identify babies born with a gene variant known as CPT1A Arctic variant. This genetic variant is almost exclusively found among Arctic indigenous populations, specifically Iñupiat and Yup’ik in Alaska, and leads to a genetic condition that slows the body’s ability to burn fat for energy.

CPT1A Arctic variant can easily be managed, but the condition can lead to serious health problems when a person does not or cannot eat, especially when very young, which is why this new test is so important to identify the genetic variant as early as possible. The gene poses a risk for people who fast for prolonged periods because their bodies cannot produce needed glucose from fat. Consequences can be grave for infants who go without food longer than overnight, and for other young children who rely on others to give them food.

According to results from the Alaska Department of Health and Social Services, this new test has found that about a quarter of Alaska Native newborns in the state hold both copies of the gene that carries the condition. Another 36 percent of Alaska Native newborns have a single copy of the gene. The CPT1A Arctic variant gene is recessive, so both copies are needed to produce the metabolic condition.

For more information on the Newborn Metabolic Screening Program visit http://dhss.alaska.gov/dph/wcfh/Pages/metabolic/services/default.aspx.